1. Incomplete masculinisation of XX subjects carrying the SRY gene on an inactive X chromosome. Issue 6 (1st June 1999) Authors: Kusz, Kamila; Kotecki, Maciej; Wojda, Alina; Szarras-Czapnik, Maria; Latos-Bielenska, Anna; Warenik-Szymankiewicz, Alina; Ruszczynska-Wolska, Anna; Jaruzelska, Jadwiga Journal: Journal of medical genetics Issue: Volume 36:Issue 6(1999) Page Start: 452 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Mosaicism for 45, X cell line may accentuate the severity of spermatogenic defects in men with AZFc deletion. Issue 11 (1st November 2001) Authors: Jaruzelska, Jadwiga; Korcz, Aleksandra; Wojda, Alina; Jedrzejczak, Piotr; Bierla, Joanna; Surmacz, Tatiana; Pawelczyk, Leszek; Page, David C; Kotecki, Maciej Journal: Journal of medical genetics Issue: Volume 38:Issue 11(2001) Page Start: 798 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Truncating mutations in exons 20 and 21 of OFD1 can cause primary ciliary dyskinesia without associated syndromic symptoms. Issue 11 (31st July 2019) Authors: Bukowy-Bieryllo, Zuzanna; Rabiasz, Alicja; Dabrowski, Maciej; Pogorzelski, Andrzej; Wojda, Alina; Dmenska, Hanna; Grzela, Katarzyna; Sroczynski, Jakub; Witt, Michal; Zietkiewicz, Ewa Journal: Journal of medical genetics Issue: Volume 56:Issue 11(2019) Page Start: 769 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗